Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report

We present a case of diaphanospondylodysostosis (DSD) which showed increased nuchal translucency at 1st trimester and missing ossification of the lower spine, short ribs with posterior gaps, and absent nasal bone in midtrimester. Autopsy revealed additionally bilateral nephroblastomatosis. Molecular...

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Detalles Bibliográficos
Autores principales: Hofstaetter, Cornelia, Courage, Carolina, Bartholdi, Deborah, Biskup, Saskia, Raio, Luigi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799658/
https://www.ncbi.nlm.nih.gov/pubmed/29445489
http://dx.doi.org/10.1002/ccr3.1368

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799658/
https://www.ncbi.nlm.nih.gov/pubmed/29445489
http://dx.doi.org/10.1002/ccr3.1368

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